Canonical Allele Identifier: CA2624071785

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324900-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324901_21324903del , CM000676.2:g.21324901_21324903del	GRCh38
NC_000014.8:g.21793060_21793062del , CM000676.1:g.21793060_21793062del	GRCh37
NC_000014.7:g.20862900_20862902del	NCBI36
NG_008933.1:g.41925_41927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2046_2048del MANE Select	ENSP00000382895.2:p.Tyr682Ter
ENST00000382933.8:c.689-2722_689-2720del	ENSP00000372391.4:n.689-2722_689-2720del
ENST00000400017.6:c.2046_2048del	ENSP00000382895.2:p.Tyr682Ter
ENST00000553500.5:n.328+176_328+178del
ENST00000553927.1:n.978_980del
ENST00000555322.5:c.473_475del
ENST00000555489.5:c.239_241del	ENSP00000451044.1:n.239_241del
ENST00000555587.5:c.471_473del	ENSP00000451262.1:p.Tyr157Ter
ENST00000556336.5:c.1682-2722_1682-2720del	ENSP00000450445.1:n.1682-2722_1682-2720del
ENST00000557771.5:c.1932_1934del	ENSP00000451219.1:p.Tyr644Ter
NM_020366.3:c.2046_2048del	NP_065099.3:p.Tyr682Ter
XM_005267879.2:c.972_974del	XP_005267936.1:p.Tyr324Ter
XM_005267880.2:c.939_941del	XP_005267937.1:p.Tyr313Ter
XM_005267881.2:c.420_422del	XP_005267938.1:p.Tyr140Ter
XM_011536978.1:c.972_974del	XP_011535280.1:p.Tyr324Ter
XM_011536979.1:c.797-41_797-39del	XP_011535281.1:n.797-41_797-39del
XM_011536980.1:c.796+176_796+178del	XP_011535282.1:n.796+176_796+178del
XM_011536981.1:c.972_974del	XP_011535283.1:p.Tyr324Ter
XM_011536982.1:c.796+176_796+178del	XP_011535284.1:n.796+176_796+178del
XM_011536983.1:c.2013_2015del	XP_011535285.1:p.Tyr671Ter
XM_005267881.3:c.420_422del	XP_005267938.1:p.Tyr140Ter
XM_017021473.1:c.972_974del	XP_016876962.1:p.Tyr324Ter
XM_024449663.1:c.972_974del	XP_024305431.1:p.Tyr324Ter
XM_024449664.1:c.972_974del	XP_024305432.1:p.Tyr324Ter
XM_024449665.1:c.796+176_796+178del	XP_024305433.1:n.796+176_796+178del
XM_024449666.1:c.796+176_796+178del	XP_024305434.1:n.796+176_796+178del
NM_001377523.1:c.689-2722_689-2720del	NP_001364452.1:n.689-2722_689-2720del
NM_001377948.1:c.972_974del	NP_001364877.1:p.Tyr324Ter
NM_001377949.1:c.796+176_796+178del	NP_001364878.1:n.796+176_796+178del
NM_001377950.1:c.689-2722_689-2720del	NP_001364879.1:n.689-2722_689-2720del
NM_001377951.1:c.191-2722_191-2720del	NP_001364880.1:n.191-2722_191-2720del
NM_020366.4:c.2046_2048del MANE Select	NP_065099.3:p.Tyr682Ter